Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22272938T>ACA473407606ANO5n.201T>A
c.1734T>A (p.Gly578=)
c.2142T>A (p.Gly714=)
n.3178T>A
c.2139T>A (p.Gly713=)
c.2184T>A (p.Gly728=)
n.2519T>A
c.2181T>A (p.Gly727=)
c.2106T>A (p.Gly702=)
c.2103T>A (p.Gly701=)
c.2091T>A (p.Gly697=)
11g.22272938T>CCA473407607ANO5n.201T>C
c.1734T>C (p.Gly578=)
c.2142T>C (p.Gly714=)
n.3178T>C
c.2139T>C (p.Gly713=)
c.2184T>C (p.Gly728=)
n.2519T>C
c.2181T>C (p.Gly727=)
c.2106T>C (p.Gly702=)
c.2103T>C (p.Gly701=)
c.2091T>C (p.Gly697=)
11g.22272938T>GCA473407609ANO5n.201T>G
c.1734T>G (p.Gly578=)
c.2142T>G (p.Gly714=)
n.3178T>G
c.2139T>G (p.Gly713=)
c.2184T>G (p.Gly728=)
n.2519T>G
c.2181T>G (p.Gly727=)
c.2106T>G (p.Gly702=)
c.2103T>G (p.Gly701=)
c.2091T>G (p.Gly697=)
11g.22272938dupCA5923470ANO5n.201dup
c.1734dup (p.Val579CysfsTer17)
c.2142dup (p.Val715CysfsTer17)
n.3178dup
c.2139dup (p.Val714CysfsTer17)
c.2184dup (p.Val729CysfsTer17)
n.2519dup
c.2181dup (p.Val728CysfsTer17)
c.2106dup (p.Val703CysfsTer17)
c.2103dup (p.Val702CysfsTer17)
c.2091dup (p.Val698CysfsTer17)
 dbSNP ExAC gnomAD v4
11g.22272939G>ACA5923471ANO5n.202G>A
c.1735G>A (p.Val579Ile)
c.2143G>A (p.Val715Ile)
n.3179G>A
c.2140G>A (p.Val714Ile)
c.2185G>A (p.Val729Ile)
n.2520G>A
c.2182G>A (p.Val728Ile)
c.2107G>A (p.Val703Ile)
c.2104G>A (p.Val702Ile)
c.2092G>A (p.Val698Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272939G>CCA379923955ANO5n.202G>C
c.1735G>C (p.Val579Leu)
c.2143G>C (p.Val715Leu)
n.3179G>C
c.2140G>C (p.Val714Leu)
c.2185G>C (p.Val729Leu)
n.2520G>C
c.2182G>C (p.Val728Leu)
c.2107G>C (p.Val703Leu)
c.2104G>C (p.Val702Leu)
c.2092G>C (p.Val698Leu)
11g.22272939G=CA1957403091ANO5n.202G=
c.1735G= (p.Val579=)
c.2143G= (p.Val715=)
n.3179G=
c.2140G= (p.Val714=)
c.2185G= (p.Val729=)
n.2520G=
c.2182G= (p.Val728=)
c.2107G= (p.Val703=)
c.2104G= (p.Val702=)
c.2092G= (p.Val698=)
11g.22272939G>TCA379923954ANO5n.202G>T
c.1735G>T (p.Val579Phe)
c.2143G>T (p.Val715Phe)
n.3179G>T
c.2140G>T (p.Val714Phe)
c.2185G>T (p.Val729Phe)
n.2520G>T
c.2182G>T (p.Val728Phe)
c.2107G>T (p.Val703Phe)
c.2104G>T (p.Val702Phe)
c.2092G>T (p.Val698Phe)
11g.22272940T>ACA379923958ANO5n.203T>A
c.1736T>A (p.Val579Asp)
c.2144T>A (p.Val715Asp)
n.3180T>A
c.2141T>A (p.Val714Asp)
c.2186T>A (p.Val729Asp)
n.2521T>A
c.2183T>A (p.Val728Asp)
c.2108T>A (p.Val703Asp)
c.2105T>A (p.Val702Asp)
c.2093T>A (p.Val698Asp)
11g.22272940T>CCA379923956ANO5n.203T>C
c.1736T>C (p.Val579Ala)
c.2144T>C (p.Val715Ala)
n.3180T>C
c.2141T>C (p.Val714Ala)
c.2186T>C (p.Val729Ala)
n.2521T>C
c.2183T>C (p.Val728Ala)
c.2108T>C (p.Val703Ala)
c.2105T>C (p.Val702Ala)
c.2093T>C (p.Val698Ala)
11g.22272940T>GCA379923957ANO5n.203T>G
c.1736T>G (p.Val579Gly)
c.2144T>G (p.Val715Gly)
n.3180T>G
c.2141T>G (p.Val714Gly)
c.2186T>G (p.Val729Gly)
n.2521T>G
c.2183T>G (p.Val728Gly)
c.2108T>G (p.Val703Gly)
c.2105T>G (p.Val702Gly)
c.2093T>G (p.Val698Gly)
11g.22272941T>ACA473407614ANO5n.204T>A
c.1737T>A (p.Val579=)
c.2145T>A (p.Val715=)
n.3181T>A
c.2142T>A (p.Val714=)
c.2187T>A (p.Val729=)
n.2522T>A
c.2184T>A (p.Val728=)
c.2109T>A (p.Val703=)
c.2106T>A (p.Val702=)
c.2094T>A (p.Val698=)
11g.22272941T>CCA473407615ANO5n.204T>C
c.1737T>C (p.Val579=)
c.2145T>C (p.Val715=)
n.3181T>C
c.2142T>C (p.Val714=)
c.2187T>C (p.Val729=)
n.2522T>C
c.2184T>C (p.Val728=)
c.2109T>C (p.Val703=)
c.2106T>C (p.Val702=)
c.2094T>C (p.Val698=)
11g.22272941T>GCA473407616ANO5n.204T>G
c.1737T>G (p.Val579=)
c.2145T>G (p.Val715=)
n.3181T>G
c.2142T>G (p.Val714=)
c.2187T>G (p.Val729=)
n.2522T>G
c.2184T>G (p.Val728=)
c.2109T>G (p.Val703=)
c.2106T>G (p.Val702=)
c.2094T>G (p.Val698=)
11g.22272942T>ACA379923959ANO5n.205T>A
c.1738T>A (p.Trp580Arg)
c.2146T>A (p.Trp716Arg)
n.3182T>A
c.2143T>A (p.Trp715Arg)
c.2188T>A (p.Trp730Arg)
n.2523T>A
c.2185T>A (p.Trp729Arg)
c.2110T>A (p.Trp704Arg)
c.2107T>A (p.Trp703Arg)
c.2095T>A (p.Trp699Arg)
11g.22272942T>CCA379923960ANO5n.205T>C
c.1738T>C (p.Trp580Arg)
c.2146T>C (p.Trp716Arg)
n.3182T>C
c.2143T>C (p.Trp715Arg)
c.2188T>C (p.Trp730Arg)
n.2523T>C
c.2185T>C (p.Trp729Arg)
c.2110T>C (p.Trp704Arg)
c.2107T>C (p.Trp703Arg)
c.2095T>C (p.Trp699Arg)
11g.22272942T>GCA379923961ANO5n.205T>G
c.1738T>G (p.Trp580Gly)
c.2146T>G (p.Trp716Gly)
n.3182T>G
c.2143T>G (p.Trp715Gly)
c.2188T>G (p.Trp730Gly)
n.2523T>G
c.2185T>G (p.Trp729Gly)
c.2110T>G (p.Trp704Gly)
c.2107T>G (p.Trp703Gly)
c.2095T>G (p.Trp699Gly)
11g.22272942_22272943delinsTGCA1957403092ANO5n.205_206delinsTG
c.1738_1739delinsTG (p.Trp580=)
c.2146_2147delinsTG (p.Trp716=)
n.3182_3183delinsTG
c.2143_2144delinsTG (p.Trp715=)
c.2188_2189delinsTG (p.Trp730=)
n.2523_2524delinsTG
c.2185_2186delinsTG (p.Trp729=)
c.2110_2111delinsTG (p.Trp704=)
c.2107_2108delinsTG (p.Trp703=)
c.2095_2096delinsTG (p.Trp699=)
11g.22272943G>ACA379923962ANO5n.206G>A
c.1739G>A (p.Trp580Ter)
c.2147G>A (p.Trp716Ter)
n.3183G>A
c.2144G>A (p.Trp715Ter)
c.2189G>A (p.Trp730Ter)
n.2524G>A
c.2186G>A (p.Trp729Ter)
c.2111G>A (p.Trp704Ter)
c.2108G>A (p.Trp703Ter)
c.2096G>A (p.Trp699Ter)
11g.22272943G>CCA379923963ANO5n.206G>C
c.1739G>C (p.Trp580Ser)
c.2147G>C (p.Trp716Ser)
n.3183G>C
c.2144G>C (p.Trp715Ser)
c.2189G>C (p.Trp730Ser)
n.2524G>C
c.2186G>C (p.Trp729Ser)
c.2111G>C (p.Trp704Ser)
c.2108G>C (p.Trp703Ser)
c.2096G>C (p.Trp699Ser)
11g.22272943G>TCA379923964ANO5n.206G>T
c.1739G>T (p.Trp580Leu)
c.2147G>T (p.Trp716Leu)
n.3183G>T
c.2144G>T (p.Trp715Leu)
c.2189G>T (p.Trp730Leu)
n.2524G>T
c.2186G>T (p.Trp729Leu)
c.2111G>T (p.Trp704Leu)
c.2108G>T (p.Trp703Leu)
c.2096G>T (p.Trp699Leu)
11g.22272944delCA1957403093ANO5n.207del
c.1740del (p.Trp580CysfsTer30)
c.2148del (p.Trp716CysfsTer30)
n.3184del
c.2145del (p.Trp715CysfsTer30)
c.2190del (p.Trp730CysfsTer30)
n.2525del
c.2187del (p.Trp729CysfsTer30)
c.2112del (p.Trp704CysfsTer30)
c.2109del (p.Trp703CysfsTer30)
c.2097del (p.Trp699CysfsTer30)
 dbSNP gnomAD v4
11g.22272944G>ACA379923965ANO5n.207G>A
c.1740G>A (p.Trp580Ter)
c.2148G>A (p.Trp716Ter)
n.3184G>A
c.2145G>A (p.Trp715Ter)
c.2190G>A (p.Trp730Ter)
n.2525G>A
c.2187G>A (p.Trp729Ter)
c.2112G>A (p.Trp704Ter)
c.2109G>A (p.Trp703Ter)
c.2097G>A (p.Trp699Ter)
11g.22272944G>CCA379923966ANO5n.207G>C
c.1740G>C (p.Trp580Cys)
c.2148G>C (p.Trp716Cys)
n.3184G>C
c.2145G>C (p.Trp715Cys)
c.2190G>C (p.Trp730Cys)
n.2525G>C
c.2187G>C (p.Trp729Cys)
c.2112G>C (p.Trp704Cys)
c.2109G>C (p.Trp703Cys)
c.2097G>C (p.Trp699Cys)
11g.22272944G>TCA379923967ANO5n.207G>T
c.1740G>T (p.Trp580Cys)
c.2148G>T (p.Trp716Cys)
n.3184G>T
c.2145G>T (p.Trp715Cys)
c.2190G>T (p.Trp730Cys)
n.2525G>T
c.2187G>T (p.Trp729Cys)
c.2112G>T (p.Trp704Cys)
c.2109G>T (p.Trp703Cys)
c.2097G>T (p.Trp699Cys)
11g.22272944_22272949delinsGCAAGACA1957403096ANO5n.207_212delinsGCAAGA
c.1740_1745delinsGCAAGA (p.Trp580=)
c.2148_2153delinsGCAAGA (p.Trp716=)
n.3184_3189delinsGCAAGA
c.2145_2150delinsGCAAGA (p.Trp715=)
c.2190_2195delinsGCAAGA (p.Trp730=)
n.2525_2530delinsGCAAGA
c.2187_2192delinsGCAAGA (p.Trp729=)
c.2112_2117delinsGCAAGA (p.Trp704=)
c.2109_2114delinsGCAAGA (p.Trp703=)
c.2097_2102delinsGCAAGA (p.Trp699=)
11g.22272945C>ACA379923970ANO5n.208C>A
c.1741C>A (p.Gln581Lys)
c.2149C>A (p.Gln717Lys)
n.3185C>A
c.2146C>A (p.Gln716Lys)
c.2191C>A (p.Gln731Lys)
n.2526C>A
c.2188C>A (p.Gln730Lys)
c.2113C>A (p.Gln705Lys)
c.2110C>A (p.Gln704Lys)
c.2098C>A (p.Gln700Lys)
11g.22272945C>GCA379923969ANO5n.208C>G
c.1741C>G (p.Gln581Glu)
c.2149C>G (p.Gln717Glu)
n.3185C>G
c.2146C>G (p.Gln716Glu)
c.2191C>G (p.Gln731Glu)
n.2526C>G
c.2188C>G (p.Gln730Glu)
c.2113C>G (p.Gln705Glu)
c.2110C>G (p.Gln704Glu)
c.2098C>G (p.Gln700Glu)
11g.22272945C>TCA379923968ANO5n.208C>T
c.1741C>T (p.Gln581Ter)
c.2149C>T (p.Gln717Ter)
n.3185C>T
c.2146C>T (p.Gln716Ter)
c.2191C>T (p.Gln731Ter)
n.2526C>T
c.2188C>T (p.Gln730Ter)
c.2113C>T (p.Gln705Ter)
c.2110C>T (p.Gln704Ter)
c.2098C>T (p.Gln700Ter)
11g.22272947_22272951delCA5923472ANO5n.210_214del
c.1743_1747del (p.Gln581HisfsTer13)
c.2151_2155del (p.Gln717HisfsTer13)
n.3187_3191del
c.2148_2152del (p.Gln716HisfsTer13)
c.2193_2197del (p.Gln731HisfsTer13)
n.2528_2532del
c.2190_2194del (p.Gln730HisfsTer13)
c.2115_2119del (p.Gln705HisfsTer13)
c.2112_2116del (p.Gln704HisfsTer13)
c.2100_2104del (p.Gln700HisfsTer13)
 ClinVar dbSNP ExAC gnomAD v2
11g.22272946A>CCA379923971ANO5n.209A>C
c.1742A>C (p.Gln581Pro)
c.2150A>C (p.Gln717Pro)
n.3186A>C
c.2147A>C (p.Gln716Pro)
c.2192A>C (p.Gln731Pro)
n.2527A>C
c.2189A>C (p.Gln730Pro)
c.2114A>C (p.Gln705Pro)
c.2111A>C (p.Gln704Pro)
c.2099A>C (p.Gln700Pro)
11g.22272946A>GCA379923972ANO5n.209A>G
c.1742A>G (p.Gln581Arg)
c.2150A>G (p.Gln717Arg)
n.3186A>G
c.2147A>G (p.Gln716Arg)
c.2192A>G (p.Gln731Arg)
n.2527A>G
c.2189A>G (p.Gln730Arg)
c.2114A>G (p.Gln705Arg)
c.2111A>G (p.Gln704Arg)
c.2099A>G (p.Gln700Arg)
11g.22272946A>TCA379923973ANO5n.209A>T
c.1742A>T (p.Gln581Leu)
c.2150A>T (p.Gln717Leu)
n.3186A>T
c.2147A>T (p.Gln716Leu)
c.2192A>T (p.Gln731Leu)
n.2527A>T
c.2189A>T (p.Gln730Leu)
c.2114A>T (p.Gln705Leu)
c.2111A>T (p.Gln704Leu)
c.2099A>T (p.Gln700Leu)
 COSMIC
11g.22272947A=CA1957403100ANO5n.210A=
c.1743A= (p.Gln581=)
c.2151A= (p.Gln717=)
n.3187A=
c.2148A= (p.Gln716=)
c.2193A= (p.Gln731=)
n.2528A=
c.2190A= (p.Gln730=)
c.2115A= (p.Gln705=)
c.2112A= (p.Gln704=)
c.2100A= (p.Gln700=)
11g.22272947A>CCA10605995ANO5n.210A>C
c.1743A>C (p.Gln581His)
c.2151A>C (p.Gln717His)
n.3187A>C
c.2148A>C (p.Gln716His)
c.2193A>C (p.Gln731His)
n.2528A>C
c.2190A>C (p.Gln730His)
c.2115A>C (p.Gln705His)
c.2112A>C (p.Gln704His)
c.2100A>C (p.Gln700His)
 ClinVar dbSNP
11g.22272947A>GCA5923473ANO5n.210A>G
c.1743A>G (p.Gln581=)
c.2151A>G (p.Gln717=)
n.3187A>G
c.2148A>G (p.Gln716=)
c.2193A>G (p.Gln731=)
n.2528A>G
c.2190A>G (p.Gln730=)
c.2115A>G (p.Gln705=)
c.2112A>G (p.Gln704=)
c.2100A>G (p.Gln700=)
 dbSNP ExAC
11g.22272947A>TCA379923974ANO5n.210A>T
c.1743A>T (p.Gln581His)
c.2151A>T (p.Gln717His)
n.3187A>T
c.2148A>T (p.Gln716His)
c.2193A>T (p.Gln731His)
n.2528A>T
c.2190A>T (p.Gln730His)
c.2115A>T (p.Gln705His)
c.2112A>T (p.Gln704His)
c.2100A>T (p.Gln700His)
11g.22272948delCA2612837287ANO5n.211del
c.1744del (p.Asp582ThrfsTer28)
c.2152del (p.Asp718ThrfsTer28)
n.3188del
c.2149del (p.Asp717ThrfsTer28)
c.2194del (p.Asp732ThrfsTer28)
n.2529del
c.2191del (p.Asp731ThrfsTer28)
c.2116del (p.Asp706ThrfsTer28)
c.2113del (p.Asp705ThrfsTer28)
c.2101del (p.Asp701ThrfsTer28)
 gnomAD v4
11g.22272948G>ACA379923975ANO5n.211G>A
c.1744G>A (p.Asp582Asn)
c.2152G>A (p.Asp718Asn)
n.3188G>A
c.2149G>A (p.Asp717Asn)
c.2194G>A (p.Asp732Asn)
n.2529G>A
c.2191G>A (p.Asp731Asn)
c.2116G>A (p.Asp706Asn)
c.2113G>A (p.Asp705Asn)
c.2101G>A (p.Asp701Asn)
11g.22272948G>CCA379923976ANO5n.211G>C
c.1744G>C (p.Asp582His)
c.2152G>C (p.Asp718His)
n.3188G>C
c.2149G>C (p.Asp717His)
c.2194G>C (p.Asp732His)
n.2529G>C
c.2191G>C (p.Asp731His)
c.2116G>C (p.Asp706His)
c.2113G>C (p.Asp705His)
c.2101G>C (p.Asp701His)
11g.22272948G>TCA379923977ANO5n.211G>T
c.1744G>T (p.Asp582Tyr)
c.2152G>T (p.Asp718Tyr)
n.3188G>T
c.2149G>T (p.Asp717Tyr)
c.2194G>T (p.Asp732Tyr)
n.2529G>T
c.2191G>T (p.Asp731Tyr)
c.2116G>T (p.Asp706Tyr)
c.2113G>T (p.Asp705Tyr)
c.2101G>T (p.Asp701Tyr)
11g.22272949A>CCA379923978ANO5n.212A>C
c.1745A>C (p.Asp582Ala)
c.2153A>C (p.Asp718Ala)
n.3189A>C
c.2150A>C (p.Asp717Ala)
c.2195A>C (p.Asp732Ala)
n.2530A>C
c.2192A>C (p.Asp731Ala)
c.2117A>C (p.Asp706Ala)
c.2114A>C (p.Asp705Ala)
c.2102A>C (p.Asp701Ala)
 gnomAD v4
11g.22272949A>GCA379923979ANO5n.212A>G
c.1745A>G (p.Asp582Gly)
c.2153A>G (p.Asp718Gly)
n.3189A>G
c.2150A>G (p.Asp717Gly)
c.2195A>G (p.Asp732Gly)
n.2530A>G
c.2192A>G (p.Asp731Gly)
c.2117A>G (p.Asp706Gly)
c.2114A>G (p.Asp705Gly)
c.2102A>G (p.Asp701Gly)
11g.22272949A>TCA379923980ANO5n.212A>T
c.1745A>T (p.Asp582Val)
c.2153A>T (p.Asp718Val)
n.3189A>T
c.2150A>T (p.Asp717Val)
c.2195A>T (p.Asp732Val)
n.2530A>T
c.2192A>T (p.Asp731Val)
c.2117A>T (p.Asp706Val)
c.2114A>T (p.Asp705Val)
c.2102A>T (p.Asp701Val)
11g.22272950C>ACA379923982ANO5n.213C>A
c.1746C>A (p.Asp582Glu)
c.2154C>A (p.Asp718Glu)
n.3190C>A
c.2151C>A (p.Asp717Glu)
c.2196C>A (p.Asp732Glu)
n.2531C>A
c.2193C>A (p.Asp731Glu)
c.2118C>A (p.Asp706Glu)
c.2115C>A (p.Asp705Glu)
c.2103C>A (p.Asp701Glu)
11g.22272950C>GCA379923981ANO5n.213C>G
c.1746C>G (p.Asp582Glu)
c.2154C>G (p.Asp718Glu)
n.3190C>G
c.2151C>G (p.Asp717Glu)
c.2196C>G (p.Asp732Glu)
n.2531C>G
c.2193C>G (p.Asp731Glu)
c.2118C>G (p.Asp706Glu)
c.2115C>G (p.Asp705Glu)
c.2103C>G (p.Asp701Glu)
11g.22272950C>TCA473407630ANO5n.213C>T
c.1746C>T (p.Asp582=)
c.2154C>T (p.Asp718=)
n.3190C>T
c.2151C>T (p.Asp717=)
c.2196C>T (p.Asp732=)
n.2531C>T
c.2193C>T (p.Asp731=)
c.2118C>T (p.Asp706=)
c.2115C>T (p.Asp705=)
c.2103C>T (p.Asp701=)
 gnomAD v4
11g.22272951A>CCA379923983ANO5n.214A>C
c.1747A>C (p.Ile583Leu)
c.2155A>C (p.Ile719Leu)
n.3191A>C
c.2152A>C (p.Ile718Leu)
c.2197A>C (p.Ile733Leu)
n.2532A>C
c.2194A>C (p.Ile732Leu)
c.2119A>C (p.Ile707Leu)
c.2116A>C (p.Ile706Leu)
c.2104A>C (p.Ile702Leu)
11g.22272951A>GCA379923984ANO5n.214A>G
c.1747A>G (p.Ile583Val)
c.2155A>G (p.Ile719Val)
n.3191A>G
c.2152A>G (p.Ile718Val)
c.2197A>G (p.Ile733Val)
n.2532A>G
c.2194A>G (p.Ile732Val)
c.2119A>G (p.Ile707Val)
c.2116A>G (p.Ile706Val)
c.2104A>G (p.Ile702Val)
11g.22272951A>TCA379923985ANO5n.214A>T
c.1747A>T (p.Ile583Phe)
c.2155A>T (p.Ile719Phe)
n.3191A>T
c.2152A>T (p.Ile718Phe)
c.2197A>T (p.Ile733Phe)
n.2532A>T
c.2194A>T (p.Ile732Phe)
c.2119A>T (p.Ile707Phe)
c.2116A>T (p.Ile706Phe)
c.2104A>T (p.Ile702Phe)

Number of alleles fetched